Variant: rs118192100

present in Gene: ND3;TRNK;ATP8;COX2;COX3;ATP6 present in Chromosome: MT Position on Chromosome: 8363 Alleles of this Variant: G/A

rs118192100 in ND3;TRNK;ATP8;COX2;COX3;ATP6 gene and Leigh Disease PMID 11108511 2000 G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.

rs118192100 in ND3;TRNK;ATP8;COX2;COX3;ATP6 gene and MELAS Syndrome PMID 8651277 1996 Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).